儿童Bainbridge-Ropers综合征1例报告并文献复习

Bainbridge-Ropers syndrome in children: a case report and literature review

目的探讨Bainbridge-Ropers综合征的临床特点。方法回顾分析1例Bainbridge-Ropers综合征患儿的临床资料及基因检测结果,并复习相关文献。结果女性患儿,11个月,表现为喂养困难,生长障碍,发育迟缓,特殊面容(小头畸形、弓形眉、睑裂上斜、鼻孔前倾、低位耳),尺偏手,四肢肌张力偏低。基因检测发现ASXL3基因存在新发杂合无义突变,为c.3106(外显子12)C>T,导致蛋白质改变为p.(Arg1036*)。结论基因检测有助于Bainbridge-Ropers综合征的早期诊断。

Objective To explore the clinical characteristics of Bainbridge-Ropers syndrome. MethodClinical data and gene test results of Bainbridge-Ropers syndrome in a child were retrospectively analyzed, and related literature was reviewed. ResultsA girl aged 11 months had feeding difficulties, failure to thrive, developmental retardation, specific facial features (microcephaly, arched eyebrows, upslanting palpebral fissures, anteverted nares and low ear), ulnar deviation of the hands, and hypotonia of the four limbs. Genomic sequencing showed ASXL3 gene has a de novo heterozygous mutation, C. 3106 (exon 12) C > T, resulting in a protein change to P.(Arg1036*). ConclusionGene detection is helpful for the early diagnosis of Bainbridge-Ropers syndrome.